Linked Data
dbSNP Id:
rs767337535
ExAC:
15:75188464 G / A
gnomAD v2:
15-75188464-G-A
gnomAD v4:
15-74896123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74896123G>A , CM000677.2:g.74896123G>A | GRCh38 |
| NC_000015.9:g.75188464G>A , CM000677.1:g.75188464G>A | GRCh37 |
| NC_000015.8:g.72975517G>A | NCBI36 |
| NG_008921.1:g.11055G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352410.9:c.671-29G>A MANE Select | ENSP00000318318.6:n.671-29G>A | |
| ENST00000323744.10:c.488-29G>A | ENSP00000318192.6:n.488-29G>A | |
| ENST00000352410.8:c.671-29G>A | ENSP00000318318.6:n.671-29G>A | |
| ENST00000535694.5:c.521-29G>A | ENSP00000440447.1:n.521-29G>A | |
| ENST00000561470.5:c.*567-29G>A | ENSP00000454267.1:n.*567-29G>A | |
| ENST00000562606.5:c.611-29G>A | ENSP00000457020.1:n.611-29G>A | |
| ENST00000562800.5:c.256-1416G>A | ENSP00000457619.1:n.256-1416G>A | |
| ENST00000563422.5:c.671-29G>A | ENSP00000457885.1:n.671-29G>A | |
| ENST00000563786.5:c.611-29G>A | ENSP00000455241.1:n.611-29G>A | |
| ENST00000564003.5:c.338-29G>A | ENSP00000454312.1:n.338-29G>A | |
| ENST00000566377.5:c.671-29G>A | ENSP00000455405.1:n.671-29G>A | |
| ENST00000566556.1:n.690G>A | ||
| ENST00000567177.1:c.449-29G>A | ENSP00000457013.1:n.449-29G>A | |
| ENST00000569931.5:c.611-29G>A | ENSP00000455161.1:n.611-29G>A | |
| NM_001289155.1:c.671-29G>A | NP_001276084.1:n.671-29G>A | |
| NM_001289156.1:c.521-29G>A | NP_001276085.1:n.521-29G>A | |
| NM_001289157.1:c.488-29G>A | NP_001276086.1:n.488-29G>A | |
| NM_002435.2:c.671-29G>A | NP_002426.1:n.671-29G>A | |
| XM_011521592.1:c.659-29G>A | XP_011519894.1:n.659-29G>A | |
| XM_011521593.1:c.611-29G>A | XP_011519895.1:n.611-29G>A | |
| NM_001330372.1:c.611-29G>A | NP_001317301.1:n.611-29G>A | |
| XM_017022208.1:c.611-29G>A | XP_016877697.1:n.611-29G>A | |
| XM_017022209.2:c.521-29G>A | XP_016877698.1:n.521-29G>A | |
| NM_002435.3:c.671-29G>A MANE Select | NP_002426.1:n.671-29G>A | |
| NM_001289155.2:c.671-29G>A | NP_001276084.1:n.671-29G>A | |
| NM_001289156.2:c.521-29G>A | NP_001276085.1:n.521-29G>A | |
| NM_001289157.2:c.488-29G>A | NP_001276086.1:n.488-29G>A | |
| NM_001330372.2:c.611-29G>A | NP_001317301.1:n.611-29G>A |